ClinVar Miner

List of variants studied for cerebrovascular disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala) rs1432737813 0.00001
NM_000484.4(APP):c.2077G>C (p.Glu693Gln) rs63750579
NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe) rs2079443410
NM_001845.6(COL4A1):c.3742+1G>A rs2139156007
NM_001846.4(COL4A2):c.1453_1469del (p.Cys485fs)
NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp) rs2139552522

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